Breast Cancer: Recurrent Genomic Alterations: Difference between revisions
| [unchecked revision] | [unchecked revision] |
Kgeiersbach (talk | contribs) update gene name EMS1 is now CTTN |
Kgeiersbach (talk | contribs) No edit summary |
||
| Line 256: | Line 256: | ||
|altered expression | |altered expression | ||
|Diseases: Basal-like TNBC shows elevated C19MC miRNA expression. C19MC is not a gene but a gene cluster that encodes 46 micro RNAs (miRNAs) at ‘q’ arm of chromosome 19, band chr19q13.42 within a span of ~100kb. The miRNAs interact with CEBPB to drive gene expression. | |Diseases: Basal-like TNBC shows elevated C19MC miRNA expression. C19MC is not a gene but a gene cluster that encodes 46 micro RNAs (miRNAs) at ‘q’ arm of chromosome 19, band chr19q13.42 within a span of ~100kb. The miRNAs interact with CEBPB to drive gene expression. | ||
|18193036; 19339516; 30335837; 37840066 | |[https://pubmed.ncbi.nlm.nih.gov/18193036/ 18193036]; [https://pubmed.ncbi.nlm.nih.gov/19339516/ 19339516]; [https://pubmed.ncbi.nlm.nih.gov/30335837/ 30335837]; [https://pubmed.ncbi.nlm.nih.gov/37840066/ 37840066] | ||
|- | |- | ||
|''CBFB'' | |''CBFB'' | ||
| Line 471: | Line 471: | ||
|2 | |2 | ||
|Gain of function | |Gain of function | ||
|164765 | |[https://omim.org/entry/164765 164765] | ||
|[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=CTTN CTTN] | |[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=CTTN CTTN] | ||
|CTTN breast | |[https://www.cbioportal.org/results/oncoprint?cancer_study_list=acbc_mskcc_2015%2Cbreast_cptac_gdc%2Cbrca_hta9_htan_2022%2Cbrca_metabric%2Cbreast_msk_2025%2Cbreast_msk_2018%2Cbrca_pareja_msk_2020%2Cbrca_mskcc_2019%2Cbreast_alpelisib_2020%2Cbrca_smc_2018%2Cbrca_bccrc_xenograft_2014%2Cbfn_duke_nus_2015%2Cbrca_bccrc%2Cbrca_broad%2Cbrca_sanger%2Cbrca_tcga_pub2015%2Cbrca_tcga%2Cbrca_tcga_pub%2Cbrca_tcga_pan_can_atlas_2018%2Cbrca_tcga_gdc%2Cbrca_jup_msk_2020%2Cbrca_mapk_hp_msk_2021%2Cmbc_msk_2021%2Cbrca_aurora_2023%2Cbrca_dfci_2020%2Cbrca_igr_2015%2Cbreast_ink4_msk_2021%2Cilc_msk_2023%2Cbrca_cptac_2020%2Cbrca_mbcproject_wagle_2017%2Cbrca_mbcproject_2022%2Cbrca_fuscc_2020&Z_SCORE_THRESHOLD=2.0&RPPA_SCORE_THRESHOLD=2.0&profileFilter=mutations%2Cstructural_variants%2Ccna%2Cgistic&case_set_id=all&gene_list=AR&geneset_list=%20&tab_index=tab_visualize&Action=Submit&exclude_germline_mutations=true CTTN breast] | ||
|amplification, altered expression, sequence variants | |amplification, altered expression, sequence variants | ||
|Diseases: primary breast cancer. Amplified in one four core regions within 11q13 that can be amplified independently or together in different combinations (11q13 amp in about 15% of breast cancers). | |Diseases: primary breast cancer. Amplified in one four core regions within 11q13 that can be amplified independently or together in different combinations (11q13 amp in about 15% of breast cancers). | ||
|10706127; 20213079; 12755491; 1532244; 16652145 | |[https://pubmed.ncbi.nlm.nih.gov/10706127/ 10706127]; [https://pubmed.ncbi.nlm.nih.gov/20213079/ 20213079]; [https://pubmed.ncbi.nlm.nih.gov/12755491/ 12755491]; [https://pubmed.ncbi.nlm.nih.gov/1532244/ 1532244]; [https://pubmed.ncbi.nlm.nih.gov/16652145/ 16652145] | ||
|- | |- | ||
|''CYP19A1'' | |''CYP19A1'' | ||